Abstract
Mixed phenotype acute leukemia (MPAL) is rare and aggressive, with no standard therapy. CEBPA mutations define favorable-risk AML, but their significance in MPAL is unknown. We reviewed eight CEBPA-mutated MPAL patients from five Chinese centers. Four received allo-HSCT in first complete remission and all remained alive and relapse-free (median follow-up of 24.0 months). Among four non-transplanted patients, three died (one refractory, two relapsed). Molecularly, four had biallelic inactivation and six had bZIP mutations. The high mortality among non-transplanted patients may suggest an aggressive nature of CEBPA-mutated MPAL, even in those with bZIP mutations, unlike its favorable-risk status in AML. Given the small sample and biases, no conclusions regarding optimal post-remission therapy can be drawn, though intensive strategies including transplantation may be considered based on this aggressiveness.